Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.

ABSTRACT:

Aims/hypothesis

Genetic association studies have demonstrated that partial loss of SLC30A8 Function protects against type 2 diabetes in humans. We investigated the impact of complete loss of SLC30A8 Function on type 2 diabetes risk and related phenotypes in humans.

Methods

The Pakistan Genome Resource (PGR), a biobank comprising whole-exome and whole-genome sequences of 145,037 participants, was analysed for phenotypic associations with SLC30A8 loss-of-function (LoF) variants. To follow up on the observations in the PGR, we conducted recall-by-genotype analyses of SLC30A8 LoF heterozygotes and homozygotes, as well as their participating family members, using OGTTs.

Results

We identified 18 SLC30A8 knockouts, including homozygotes for a variant enriched in South Asians

SUBMITTER: Lamarche LB 

PROVIDER: S-EPMC12594714 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature